Vitamin D Deficiency and Fabry Disease

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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Fabry disease is a rare genetic disorder caused by a type of fat building up in cells, damaging the heart and kidneys.

Vitamin D and Fabry disease

The heart problems that Fabry disease causes can make exercise challenging for patients. Combined with an inability to sweat, many patients avoid outside activities, which may cause vitamin D deficiency. Researchers think that vitamin D deficiency in Fabry patients may increase the risk of heart complications.

Vitamin D deficiency also is associated with kidney problems such as proteinuria (too much protein in the urine), which is another symptom of Fabry disease.

What is vitamin D?

Vitamin D is an important fat-soluble vitamin. We can get some vitamin D from our diet, but we get the majority of our vitamin D from exposure to sunlight. A metabolic precursor of vitamin D is present in our skin, and when we expose ourselves to sunlight, our body converts this precursor into vitamin D.

Vitamin D is essential for absorbing calcium from our diet, as well as maintaining calcium and phosphate levels in the blood. That’s why vitamin D is important for building and maintaining strong bones.

How do I know if I have vitamin D deficiency?

The test for vitamin D deficiency is simple. A nurse will collect a small blood sample at your hospital or clinic and send it to a laboratory for testing. This test will measure the levels of vitamin D in your blood. Your doctor will discuss the test results with you and determine if you need supplements or other treatments.

How do doctors treat vitamin D deficiency?

Doctors easily treat vitamin D deficiency with supplements. Most patients can take a vitamin D supplement in an oral capsule or tablet, though some patients may need a prescription-strength formulation. Patients with extreme vitamin D deficiencies might need an injection of a vitamin D supplement to quickly increase their vitamin D levels.

Always talk to your doctor before changing your medication or supplement regimen.


Last updated: May 8, 2020


Fabry Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.